Clinical outcomes of preimplantation genetic testing for hereditary cancer syndromes: A systematic review

Objective To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT‐M) for hereditary cancer syndromes (HCS). Methods Three electronic databases (PubMed, Cochrane, and EMBASE) were searched for publications...

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Bibliographic Details
Published in:Prenatal diagnosis 2022-02, Vol.42 (2), p.201-211
Main Authors: Vriesen, Natalie, Carmany, Erin P., Natoli, Jaime L.
Format: Article
Language:English
Subjects:
Cancer
Clinical outcomes
Decision making
Disorders
Embryos
Female
Genetic screening
Genetic Testing - methods
Heterogeneity
Humans
Literature reviews
Neoplastic Syndromes, Hereditary - diagnosis
Outcome Assessment, Health Care
Pregnancy
Pregnancy Outcome
Preimplantation Diagnosis - methods
Systematic review
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Summary:Objective To conduct a systematic review of the published literature on clinical outcomes following preimplantation genetic testing for monogenic disorders (PGT‐M) for hereditary cancer syndromes (HCS). Methods Three electronic databases (PubMed, Cochrane, and EMBASE) were searched for publications related to PGT‐M for HCS. When appropriate, weighted means were used to calculate clinical and live birth rates. Results We identified 22 publications that reported on clinical and/or psychosocial outcomes of PGT‐M for HCS. The weighted mean clinical pregnancy rate (CPR) per embryo was 33.5% (11 studies, 95% CI: 29.1%, 38.2%), and the CPR per cycle with embryonic transfer was 40.1% (14 studies, 95% CI: 36.1%, 44.3%). The weighted mean live birth rate (LBR) per embryo was 28.9% (11 studies, 95% CI: 24.7%, 33.4%) and the LBR per cycle with embryonic transfer was 33.2% (13 studies, 95% CI: 29.2%, 37.4%). The limited literature regarding the psychosocial outcomes of PGT‐M for HCS suggests reproductive decision‐making is difficult and additional support may be desired. Conclusion These findings suggest that CPR and LBR following PGT‐M for HCS are comparable to other monogenic disorders. Heterogeneity across studies suggests the overall CPR and LBR found may not be applicable to all HCS indications and PGT‐M methodologies. Key points What is already known about this topic? Preimplantation genetic testing for monogenic conditions (PGT‐M) is a reproductive option to reduce the chance of having a child with a heritable genetic condition. What does this study add? This systematic review provides the most comprehensive synthesis of clinical outcomes of PGT‐M for hereditary cancer syndromes (HCS). Overall, clinical pregnancy rates (CPR) and live birth rates (LBR) following PGT‐M for HCS are similar to other monogenic disorders.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.6084